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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ETV6-CIDEA (FusionGDB2 ID:HG2120TG1149)

Fusion Gene Summary for ETV6-CIDEA

check button Fusion gene summary
Fusion gene informationFusion gene name: ETV6-CIDEA
Fusion gene ID: hg2120tg1149
HgeneTgene
Gene symbol

ETV6

CIDEA

Gene ID

2120

1149

Gene nameETS variant transcription factor 6cell death inducing DFFA like effector a
SynonymsTEL|TEL/ABL|THC5CIDE-A
Cytomap('ETV6')('CIDEA')

12p13.2

18p11.21|18

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor ETV6ETS translocation variant 6ETS variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene)cell death activator CIDE-A
Modification date2020031320200313
UniProtAcc

P41212

.
Ensembl transtripts involved in fusion geneENST00000544715, ENST00000396373, 
Fusion gene scores* DoF score59 X 37 X 25=545753 X 4 X 3=36
# samples 583
** MAII scorelog2(58/54575*10)=-6.55604351475058
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/36*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ETV6 [Title/Abstract] AND CIDEA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointETV6(11803094)-CIDEA(12274092), # samples:3
Anticipated loss of major functional domain due to fusion event.ETV6-CIDEA seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ETV6-CIDEA seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneETV6

GO:0000122

negative regulation of transcription by RNA polymerase II

10514502


check buttonFusion gene breakpoints across ETV6 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across CIDEA (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4MESOTCGA-SC-A6LN-01AETV6chr12

11803091

+CIDEAchr18

12274089

+
ChimerDB4MESOTCGA-SC-A6LN-01AETV6chr12

11803094

-CIDEAchr18

12274092

+
ChimerDB4MESOTCGA-SC-A6LN-01AETV6chr12

11803094

+CIDEAchr18

12274092

+


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Fusion Gene ORF analysis for ETV6-CIDEA

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
3UTR-3CDSENST00000544715ENST00000320477ETV6chr12

11803091

+CIDEAchr18

12274089

+
3UTR-3CDSENST00000544715ENST00000320477ETV6chr12

11803094

+CIDEAchr18

12274092

+
3UTR-3UTRENST00000544715ENST00000521296ETV6chr12

11803091

+CIDEAchr18

12274089

+
3UTR-3UTRENST00000544715ENST00000521296ETV6chr12

11803094

+CIDEAchr18

12274092

+
5CDS-3UTRENST00000396373ENST00000521296ETV6chr12

11803091

+CIDEAchr18

12274089

+
5CDS-3UTRENST00000396373ENST00000521296ETV6chr12

11803094

+CIDEAchr18

12274092

+
In-frameENST00000396373ENST00000320477ETV6chr12

11803091

+CIDEAchr18

12274089

+
In-frameENST00000396373ENST00000320477ETV6chr12

11803094

+CIDEAchr18

12274092

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000396373ETV6chr1211803094+ENST00000320477CIDEAchr1812274092+7403075341178
ENST00000396373ETV6chr1211803091+ENST00000320477CIDEAchr1812274089+7403075341178

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000396373ENST00000320477ETV6chr1211803094+CIDEAchr1812274092+0.037996110.96200395
ENST00000396373ENST00000320477ETV6chr1211803091+CIDEAchr1812274089+0.037996110.96200395

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Fusion Genomic Features for ETV6-CIDEA


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
ETV6chr1211803094+CIDEAchr1812274091+3.13E-060.9999969
ETV6chr1211803094+CIDEAchr1812274091+3.13E-060.9999969

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for ETV6-CIDEA


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:11803094/chr18:12274092)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ETV6

P41212

.
FUNCTION: Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignant transformation. {ECO:0000269|PubMed:25581430}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneETV6chr12:11803091chr18:12274089ENST00000396373+18339_42011453.0DNA bindingETS
HgeneETV6chr12:11803094chr18:12274092ENST00000396373+18339_42011453.0DNA bindingETS
HgeneETV6chr12:11803091chr18:12274089ENST00000396373+1840_12411453.0DomainPNT
HgeneETV6chr12:11803094chr18:12274092ENST00000396373+1840_12411453.0DomainPNT
TgeneCIDEAchr12:11803091chr18:12274089ENST000003204772533_110110220.0DomainCIDE-N
TgeneCIDEAchr12:11803094chr18:12274092ENST000003204772533_110110220.0DomainCIDE-N


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Fusion Gene Sequence for ETV6-CIDEA


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>27709_27709_1_ETV6-CIDEA_ETV6_chr12_11803091_ENST00000396373_CIDEA_chr18_12274089_ENST00000320477_length(transcript)=740nt_BP=307nt
GCGTCCCGGGTCCCCGCGCCGCGCCGCGACCTGCAGACCCCGCCGCCGCGCTCGGGCCCGTCTCCCACGCCCCCGCCGCCCCGCGCGCCC
AACTCCGCCGGCCGCCCCGCCCCGCCCCGCGCGCTCCAGACCCCCGGGGCGGCTGCCGGGAGAGATGCTGGAAGAAACTTCTTAAATGAC
CGCGTCTGGCTGGCCGTGGAGCCTTTCTGGGTTGGGGAGAGGAAAGGAAAGTGGAAAAAACCTGAGAACTTCCTGATCTCTCTCGCTGTG
AGACATGTCTGAGACTCCTGCTCAGTGTAGCATTAAGGGCAGCCAGCACGTCCCCACTTGCTCGCCGCCGAAGAGGTCGGGAATAGCGAG
AGTCACCTTCGACTTGTACAGGCTGAACCCCAAGGACTTCATCGGCTGCCTTAACGTGAAGGCCACCATGTATGAGATGTACTCCGTGTC
CTACGACATCCGGTGCACGGGACTCAAGGGCCTGCTGAGGAGTCTGCTGCGGTTCCTGTCCTACTCCGCCCAGGTGACGGGACAGTTTCT
CATCTATCTGGGCACATACATGCTCCGGGTGCTGGATGACAAGGAAGAGCGGCCATCCCTCCGGTCACAAGCCAAGGGCAGGTTCACGTG
TGGATAGGGATGCAGGCTGTCGCCGGCTCTTGAGCCAAACACTGTGTTTCGTTTGGCTCAATGACGAATGTTGAAGATGCTTTTATGTTC

>27709_27709_1_ETV6-CIDEA_ETV6_chr12_11803091_ENST00000396373_CIDEA_chr18_12274089_ENST00000320477_length(amino acids)=178AA_BP=1
MSRHLGGVGQEPQQTPQQALESRAPDVVGHGVHLIHGGLHVKAADEVLGVQPVQVEGDSRYSRPLRRRASGDVLAALNATLSRSLRHVSQ

--------------------------------------------------------------
>27709_27709_2_ETV6-CIDEA_ETV6_chr12_11803094_ENST00000396373_CIDEA_chr18_12274092_ENST00000320477_length(transcript)=740nt_BP=307nt
GCGTCCCGGGTCCCCGCGCCGCGCCGCGACCTGCAGACCCCGCCGCCGCGCTCGGGCCCGTCTCCCACGCCCCCGCCGCCCCGCGCGCCC
AACTCCGCCGGCCGCCCCGCCCCGCCCCGCGCGCTCCAGACCCCCGGGGCGGCTGCCGGGAGAGATGCTGGAAGAAACTTCTTAAATGAC
CGCGTCTGGCTGGCCGTGGAGCCTTTCTGGGTTGGGGAGAGGAAAGGAAAGTGGAAAAAACCTGAGAACTTCCTGATCTCTCTCGCTGTG
AGACATGTCTGAGACTCCTGCTCAGTGTAGCATTAAGGGCAGCCAGCACGTCCCCACTTGCTCGCCGCCGAAGAGGTCGGGAATAGCGAG
AGTCACCTTCGACTTGTACAGGCTGAACCCCAAGGACTTCATCGGCTGCCTTAACGTGAAGGCCACCATGTATGAGATGTACTCCGTGTC
CTACGACATCCGGTGCACGGGACTCAAGGGCCTGCTGAGGAGTCTGCTGCGGTTCCTGTCCTACTCCGCCCAGGTGACGGGACAGTTTCT
CATCTATCTGGGCACATACATGCTCCGGGTGCTGGATGACAAGGAAGAGCGGCCATCCCTCCGGTCACAAGCCAAGGGCAGGTTCACGTG
TGGATAGGGATGCAGGCTGTCGCCGGCTCTTGAGCCAAACACTGTGTTTCGTTTGGCTCAATGACGAATGTTGAAGATGCTTTTATGTTC

>27709_27709_2_ETV6-CIDEA_ETV6_chr12_11803094_ENST00000396373_CIDEA_chr18_12274092_ENST00000320477_length(amino acids)=178AA_BP=1
MSRHLGGVGQEPQQTPQQALESRAPDVVGHGVHLIHGGLHVKAADEVLGVQPVQVEGDSRYSRPLRRRASGDVLAALNATLSRSLRHVSQ

--------------------------------------------------------------

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Fusion Gene PPI Analysis for ETV6-CIDEA


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for ETV6-CIDEA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ETV6-CIDEA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneETV6C4015537THROMBOCYTOPENIA 54CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneETV6C0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma3CTD_human
HgeneETV6C0040034Thrombocytopenia3CTD_human;GENOMICS_ENGLAND
HgeneETV6C0023480Leukemia, Myelomonocytic, Chronic2ORPHANET
HgeneETV6C1332965Congenital Mesoblastic Nephroma2ORPHANET
HgeneETV6C0006413Burkitt Lymphoma1ORPHANET
HgeneETV6C0013146Drug abuse1CTD_human
HgeneETV6C0013170Drug habituation1CTD_human
HgeneETV6C0013222Drug Use Disorders1CTD_human
HgeneETV6C0023452Childhood Acute Lymphoblastic Leukemia1CTD_human
HgeneETV6C0023453L2 Acute Lymphoblastic Leukemia1CTD_human
HgeneETV6C0023467Leukemia, Myelocytic, Acute1CGI;CTD_human;GENOMICS_ENGLAND
HgeneETV6C0029231Organic Mental Disorders, Substance-Induced1CTD_human
HgeneETV6C0038580Substance Dependence1CTD_human
HgeneETV6C0038586Substance Use Disorders1CTD_human
HgeneETV6C0087031Juvenile-Onset Still Disease1CTD_human
HgeneETV6C0236969Substance-Related Disorders1CTD_human
HgeneETV6C0238463Papillary thyroid carcinoma1ORPHANET
HgeneETV6C0376544Hematopoietic Neoplasms1CTD_human
HgeneETV6C0376545Hematologic Neoplasms1CTD_human
HgeneETV6C0740858Substance abuse problem1CTD_human
HgeneETV6C1292769Precursor B-cell lymphoblastic leukemia1ORPHANET
HgeneETV6C1510472Drug Dependence1CTD_human
HgeneETV6C1832388Platelet Disorder, Familial, with Associated Myeloid Malignancy1ORPHANET
HgeneETV6C1838656Macrocytosis, Familial1CTD_human
HgeneETV6C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
HgeneETV6C3495559Juvenile arthritis1CTD_human
HgeneETV6C3714758Juvenile psoriatic arthritis1CTD_human
HgeneETV6C4316881Prescription Drug Abuse1CTD_human
HgeneETV6C4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
HgeneETV6C4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
TgeneC0023903Liver neoplasms2CTD_human
TgeneC0345904Malignant neoplasm of liver2CTD_human
TgeneC0018801Heart failure1CTD_human
TgeneC0018802Congestive heart failure1CTD_human
TgeneC0023212Left-Sided Heart Failure1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0028754Obesity1CTD_human
TgeneC0235527Heart Failure, Right-Sided1CTD_human
TgeneC1959583Myocardial Failure1CTD_human
TgeneC1961112Heart Decompensation1CTD_human